CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops (Q35005967)

5 August 2017

title

CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops (English)

1 reference

5 August 2017

1 reference

Sohela Shah

1

1 reference

5 August 2017

Laura K Conlin

2

1 reference

5 August 2017

Luis Gomez

3

1 reference

5 August 2017

Øystein Aagenaes

4

1 reference

5 August 2017

Kristin Eiklid

5

1 reference

5 August 2017

A S Knisely

6

1 reference

5 August 2017

Michael T Mennuti

7

1 reference

5 August 2017

Randolph P Matthews

8

1 reference

5 August 2017

Nancy B Spinner

9

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5 August 2017

Laura N Bull

10

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5 August 2017

language of work or name

English

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publication date

26 September 2013

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5 August 2017

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5 August 2017

volume

8

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5 August 2017

issue

9

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5 August 2017

page(s)

e75770

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Creative Commons Attribution 4.0 International

5 August 2017

copyright license

start time

26 September 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784396

The secreted lymphangiogenic factor CCBE1 is essential for fetal liver erythropoiesis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784396

Ccbe1 expression marks the cardiac and lymphatic progenitor lineages during early stages of mouse development

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784396

CCBE1 Is Essential for Mammalian Lymphatic Vascular Development and Enhances the Lymphangiogenic Effect of Vascular Endothelial Growth Factor-C In Vivo

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784396

Lymphatic vascular morphogenesis in development, physiology, and disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784396

A method and server for predicting damaging missense mutations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784396

Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784396

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784396

Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784396

Ccbe1 is required for embryonic lymphangiogenesis and venous sprouting

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784396

A second generation human haplotype map of over 3.1 million SNPs

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784396

Functional variants of the central bile acid sensor FXR identified in intrahepatic cholestasis of pregnancy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784396

Molecular mechanisms of cholestasis.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784396

Effects of angiogenic factor overexpression by human and rodent cholangiocytes in polycystic liver diseases

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784396

Molecular basis of intrahepatic cholestasis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784396

Characterization of mutations in ATP8B1 associated with hereditary cholestasis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784396

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784396

Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784396

Inhibition of human m-epoxide hydrolase gene expression in a case of hypercholanemia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784396

Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784396

Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784396

A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784396

The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784396

Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784396

A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784396

A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784396

Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784396

Mutations in the MDR 3 gene cause progressive familial intrahepatic cholestasis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784396

Lymphoedema in Hereditary Recurrent Cholestasis from Birth

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784396

Platelet adhesion in hypertension: application of a novel assay of platelet adhesion

8 July 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0075770

Fetal anatomy of peripheral lymphatic vessels: a D2-40 immunohistochemical study using an 18-week human fetus (CRL 155 mm).

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0075770

A genome-wide scalable SNP genotyping assay using microarray technology

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0075770

Bile acid-CoA ligase deficiency--a new inborn error of bile acid metabolism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0075770

Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3784396

CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non-immune hydrops fetalis

26 October 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0075770

Immunohistochemistry in non-immune hydrops fetalis: a single center experience in 79 fetuses

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24086631

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0075770

1 reference

5 August 2017

0 references

1 reference

5 August 2017

1 reference